🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Richard H. van Jaarsveld

University Medical Center Utrecht

ORCID: 0000-0001-5247-6965
Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 7%percentile
0.165Author DataRank

Indexed papers

1in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555
Top 70%
0.165DataRank
Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

Papers

Driven by 14 papers — median percentile 30. Top paper: “Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay”.

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay

Human Molecular Genetics(2020)10.1093/hmg/ddaa078
N/A
0.515DataRank · unranked
30 citations

Xiao Mao, Richard H. van Jaarsveld, Li Shu, Paulien A. Terhal, Zhengjun Jia +8 more

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555
Top 70%
0.165DataRank
Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z
N/A
0DataRank · unranked
108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8
N/A
0DataRank · unranked
49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147
N/A
0DataRank · unranked
18 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +32 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342
N/A
0DataRank · unranked
3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w
N/A
0DataRank · unranked
47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome

Journal of Clinical Investigation(2022)10.1172/jci159002
N/A
0DataRank · unranked
28 citations

Yichi Zhang, Marie-José van den Boogaard, John McAnally, Cristina Rodríguez-Caycedo, Andreas C. Chai +12 more

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.007
N/A
0DataRank · unranked
26 citations

Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson +33 more

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011
N/A
0DataRank · unranked
24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189
N/A
0DataRank · unranked
36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development

Nature Communications(2023)10.1038/s41467-023-40223-y
N/A
0DataRank · unranked
12 citations

Shaun R. Abrams, Jenny Hsin, Jason C. Collins, Rita M. Yazejian, Youmei Wu +9 more

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.09.434675
N/A
0DataRank · unranked
2 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +25 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481
N/A
0DataRank · unranked
3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more